ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.795del (p.Ala266fs) rs63749902
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del

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